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Neonatal sclerosing cholangitis

Céline Khalifa, Geoffrey Boliaki Botombe, Xavier Stephenne, Francis Veyckemans
We report for the first time the anesthetic management of 2 sisters suffering from neonatal ichthyosis and sclerosing cholangitis syndrome. They both presented with neonatal cholestatic jaundice and ichthyosis. The first was admitted for orthotopic liver transplantation at the age of 1 year, and the second patient underwent open pyeloplasty for a pyeloureteric junction syndrome at the age of 4 years. These 2 case reports highlight that, except for the potential difficulties with securing the catheters, dressings and endotracheal tube to the skin, the anesthetic implications of neonatal ichthyosis and sclerosing cholangitis syndrome are mainly related to the liver disease: cirrhosis and portal hypertension...
May 7, 2018: A&A practice
S Szepetowski, C Lacoste, S Mallet, B Roquelaure, C Badens, A Fabre
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c...
December 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Naman Sadanand Shetty, Ira Shah
Neonatal cholestasis is rarely caused due to primary sclerosing cholangitis, which is an inflammatory disease of the bile ducts, which results in obstructive fibrosis of the ducts. A 7-month-old male child presented with jaundice along with high-colored urine and clay-colored stools since birth. Liver biopsy showed mild bile duct proliferation with cholangioles showing bile and thrombi suggestive of primary sclerosing cholangitis.
October 2016: Journal of Family Medicine and Primary Care
Tassos Grammatikopoulos, Melissa Sambrotta, Sandra Strautnieks, Pierre Foskett, A S Knisely, Bart Wagner, Maesha Deheragoda, Chris Starling, Giorgina Mieli-Vergani, Joshua Smith, Laura Bull, Richard J Thompson
BACKGROUND & AIMS: Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly leading to liver transplantation (LT) for end-stage liver disease in childhood. Liver biopsy findings histopathologically resemble those in biliary atresia (BA); however, in NSC extrahepatic bile ducts are patent, whilst in BA their lumina are obliterated. NSC is commonly seen in consanguineous kindreds, suggesting autosomal recessive inheritance. METHODS: From 29 NSC patients (24 families) identified, DNA was available in 24 (21 families)...
December 2016: Journal of Hepatology
Muriel Girard, Albane A Bizet, Alain Lachaux, Emmanuel Gonzales, Emilie Filhol, Sophie Collardeau-Frachon, Cécile Jeanpierre, Charline Henry, Monique Fabre, Loic Viremouneix, Louise Galmiche, Dominique Debray, Christine Bole-Feysot, Patrick Nitschke, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurelia Bertholet, Emmanuel Jacquemin, Alexandra Henrion-Caude, Sophie Saunier
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown. We identified biallelic missense mutations or in-frame deletion in DCDC2 in four affected children. Mutations involve highly conserved amino acids in the doublecortin domains of the protein. In cholangiocytes, DCDC2 protein is normally located in the cytoplasm and cilia, whereas in patients the mutated protein is accumulated in the cytoplasm, absent from cilia, and associated with ciliogenesis defect...
October 2016: Human Mutation
Andreas E Kremer, Emmanuel Gonzales, Frank G Schaap, Ronald P J Oude Elferink, Emmanuel Jacquemin, Ulrich Beuers
OBJECTIVE: Pruritus is a common symptom of cholestatic liver disorders. The present study aimed at evaluating autotaxin (ATX), a lysophospholipase recently identified as potential cause for cholestatic pruritus, in pediatric cholestatic diseases presenting with or without itching. METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary atresia [n = 2], neonatal sclerosing cholangitis (n = 1), progressive familial intrahepatic cholestasis type 2 [n = 1]), 9 patients with bile acid synthesis defects (3β-hydroxy-C27-steroid-oxidoreductase [n = 7] and Δ-3-oxosteroid-5β-reductase deficiency [n = 2]), and 22 healthy children were studied...
April 2016: Journal of Pediatric Gastroenterology and Nutrition
Casper Q Kammeijer, Robert A De Man, Christianne J M De Groot
Primary sclerosing cholangitis is a progressive disease, and coincidentally in pregnancy it is rare. It is characterized by progressive inflammation and destruction of bile ducts finally resulting in liver failure. A rare case of primary sclerosing cholangitis in pregnancy is presented. The course of the pregnancy was marked by threatened preterm delivery and exacerbation of cholestasis. She was successfully treated with ursodeoxycholic acid (UDCA). Although, primary sclerosing cholangitis has both maternal and fetal effects on pregnancy, the overall outcome is favorable...
July 1, 2011: Clinics and Practice
Jonas F Ludvigsson, Annika Bergquist, Gunilla Ajne, Sunanda Kane, Anders Ekbom, Olof Stephansson
BACKGROUND & AIMS: Studies of primary sclerosing cholangitis (PSC) and pregnancy outcomes have been limited in size and have been inadequate to rule out excess risks. We examined pregnancy outcomes among women with PSC. METHODS: Women with PSC were identified from inpatient and hospital-based outpatient data in the Swedish National Patient Register. Through linkage with the Medical Birth Register, we identified 229 singleton births, from 1987 through 2009, to women with PSC before delivery...
January 2014: Clinical Gastroenterology and Hepatology
Quin Y Liu, Vivien Nguyen
Congenital biliary tract anomalies typically present with neonatal cholestasis. In children and adults, endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound are used to evaluate and treat choledochal cysts. Contrarily, endoscopy has traditionally played a minor role in the diagnosis of the cholestatic infant. Recent studies support the incorporation of ERCP into the diagnostic algorithm for biliary atresia and neonatal cholestasis. But at present, most pediatric liver centers do not consider its use essential...
April 2013: Gastrointestinal Endoscopy Clinics of North America
Sri Dantuluri, Arun Urs, Sivaramakrishnan Venkatesh Karthik
Follicular carcinoma of the thyroid is a relatively rare malignancy in childhood even in paediatric solid organ transplant recipients. The risk of developing de novo malignancies after liver transplantation is higher compared to the general population. We report an 18-yr-old girl who had successfully undergone liver transplantation five yr earlier for neonatal sclerosing cholangitis complicated by the development of dysplastic nodules. Baseline immunosuppression was with tacrolimus and prednisolone. Mycophenolate mofetil was later added in view of steroid-resistant episodes of graft rejection...
December 2012: Pediatric Transplantation
Muriel Girard, Stéphanie Franchi-Abella, Florence Lacaille, Dominique Debray
Sclerosing cholangitis (SC) is a chronic cholestatic disease characterized by inflammation and obliterative fibrosis of the bile ducts, leading to biliary cirrhosis and ultimately to liver failure. Four main clinical forms can be distinguished in children: i) neonatal SC, most probably a genetic disease transmitted by autosomal recessive inheritance; ii) SC associated with strong features of autoimmunity (referred as autoimmune sclerosing cholangitis) with quite good response to immuno-suppression iii) primary SC of unknown etiology (i...
December 2012: Clinics and Research in Hepatology and Gastroenterology
Andrew S Chu, Pierre A Russo, Rebecca G Wells
Biliary atresia (BA) is a neonatal disorder characterized by aggressive fibroinflammatory obliteration of the biliary tract. Approximately 20 percent of BA patients demonstrate left-right laterality defects (syndromic BA). Cilia participate in important physiological functions in cholangiocytes, and as some ciliopathies have been associated with both laterality defects and hepatic fibrosis, we hypothesized that patients with syndromic BA exhibit abnormalities of cholangiocyte cilia that disrupt cholangiocyte homeostasis...
May 2012: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Khalid Alswat, Nadya Al-Harthy, Waseem Mazrani, Ghazi Alshumrani, Kartik Jhaveri, Gideon M Hirschfield
OBJECTIVES: American Association for the Study of Liver Diseases (AASLD) guidance recommends measurement of IgG4 in patients with sclerosing cholangitis (SC). The objective of this study was to evaluate this by analyzing our SC practice. METHODS: Characteristics were collected on 168 patients with radiological or biopsy proven SC; IgG4 was measured and magnetic resonance cholangiopancreatography studies were reviewed. RESULTS: In all, 49% of patients were females and 55% had inflammatory bowel disease...
January 2012: American Journal of Gastroenterology
Brigitte Grosse, Doris Cassio, Nadya Yousef, Céline Bernardo, Emmanuel Jacquemin, Emmanuel Gonzales
UNLABELLED: Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is a liver disease caused by mutations of CLDN1 encoding Claudin-1, a tight-junction (TJ) protein. In this syndrome, it is speculated that cholestasis is caused by Claudin-1 absence, leading to increased paracellular permeability and liver injuries secondary to paracellular bile regurgitation. We studied the role of claudin-1 in hepatic paracellular permeability. A NISCH liver and polarized rat cell lines forming TJs, the hepatocellular Can 10 and the cholangiocellular normal rat choloangiocyte (NRC), were used...
April 2012: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Massimiliano Paganelli, Xavier Stephenne, Allison Gilis, Emmanuel Jacquemin, Alexandra Henrion Caude, Muriel Girard, Emmanuel Gonzales, Nicole Revencu, Raymond Reding, Catherine Wanty, Françoise Smets, Etienne M Sokal
No abstract text is available yet for this article.
September 2011: Journal of Pediatric Gastroenterology and Nutrition
Ira Shah, Susmita Bhatnagar
AIM: To determine etiological spectrum as well as clinical profile of chronic hepatobiliary disorders in children. METHODS: 45 children with chronic hepatobiliary disorders were evaluated in the study.out of 105 children with liver diseases referred to the clinic. All underwent detailed history and clinical examination. Clinical and laboratory features as well as causes of chronic hepatobiliary disorders were studied. RESULTS: The common causes were biliary atresia in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each...
April 2010: Tropical Gastroenterology: Official Journal of the Digestive Diseases Foundation
Ira Shah, Susmita Bhatnagar
Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by ichthyosis, sclerosing cholangitis and alopecia. Only 5 patients have been described till now. We report a patient presenting with clinical characteristics of NISCH syndrome and hypothyroxinemia.
July 2010: Annals of Hepatology
I F Nagtzaam, M van Geel, A Driessen, P M Steijlen, M A M van Steensel
Neonatal ichthyosis-sclerosing cholangitis (NISCh) syndrome is a rare autosomal recessive disorder associated with scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. It is caused by homozygous mutations in the CLDN1 gene coding for the tight junction component claudin-1. Only five patients have been reported so far: four patients from two inbred Moroccan families, all carrying a dinucleotide deletion c.200_201delTT in the CLDN1 gene and a Swiss patient with a 1-bp deletion (c.358delG) in exon 2...
July 2010: British Journal of Dermatology
Naresh P Shanmugam, Phillip M Harrison, John Devlin, Praveen Peddu, A S Knisely, Mark Davenport, Nedim Hadzić
OBJECTIVES: We investigated the role and safety of endoscopic retrograde cholangiopancreatography (ERCP) in diagnosing biliary atresia (BA) in prolonged neonatal cholestasis, when standard workup was inconclusive. PATIENTS AND METHODS: We reviewed notes of 48 cholestatic infants younger than 100 days undergoing ERCP from 1997 to 2007. RESULTS: Amongst approximately 3300 infants evaluated for liver disease during the study, 224 (6.8%) were diagnosed with BA...
October 2009: Journal of Pediatric Gastroenterology and Nutrition
Michael Trauner, Peter Fickert, Emina Halilbasic, Tarek Moustafa
Alterations in bile secretion at the hepatocellular and cholangiocellular levels may cause cholestasis. Formation of 'toxic bile' may be the consequence of abnormal bile composition and can result in hepatocellular and/or bile duct injury. The canalicular phospholipid flippase (Mdr2/MDR3) normally mediates biliary excretion of phospholipids, which normally form mixed micelles with bile acids and cholesterol to protect the bile duct epithelium from the detergent properties of bile acids. Mdr2 knockout mice are not capable of excreting phospholipids into bile and spontaneously develop bile duct injury with macroscopic and microscopic features closely resembling human sclerosing cholangitis...
2008: Wiener Medizinische Wochenschrift
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